Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_assertion> ?p ?o ?g. }
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- NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_assertion type Assertion NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_head.
- NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_assertion description "[The main observations were: 1) all LGMD2E and LGMD2F patients had a severe condition, but considerable inter- and intra-familial clinical variability was observed among patients from all other groups; 2) serum CK activities showed the highest values in LGMD2D (alpha-SG) patients among sarcoglycanopathies and LGMD2B (dysferlin) patients among nonsarcoglycanopathies; 3) comparison between LGMD2A (CAPN3) and LGMD2B (dysferlin) showed that the first have on average a more severe course and have calf hypertrophy more frequently (86% versus 13%); and 4) inability to walk on toes was observed in approximately 70% of LGMD2B patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_provenance.
- NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_assertion evidence source_evidence_literature NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_provenance.
- NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_assertion SIO_000772 10069710 NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_provenance.
- NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_assertion wasDerivedFrom befree-2016 NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_provenance.
- NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_assertion wasGeneratedBy ECO_0000203 NP247154.RAe1FK7TftvV-C6Vg3LJT5yQNRFv8Mi_OAZxxu00c7YyY130_provenance.